Canonical Allele Identifier: CA1360917128

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717690A= , CM000665.2:g.43717690A=	GRCh38
NC_000003.11:g.43759182A= , CM000665.1:g.43759182A=	GRCh37
NC_000003.10:g.43734186A=	NCBI36
NG_007090.3:g.31808A=
NG_007090.5:g.31821A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-76A=
ENST00000454293.2:c.670A=	ENSP00000412014.2:p.Asn224=
ENST00000458276.7:c.774-753A=	ENSP00000390849.3:n.774-753A=
ENST00000463153.2:c.20A=
ENST00000642351.1:c.670A=	ENSP00000494478.1:p.Asn224=
ENST00000643140.1:c.*155A=	ENSP00000495588.1:n.*155A=
ENST00000643477.1:c.*254A=	ENSP00000496220.1:n.*254A=
ENST00000643500.1:c.681A=	ENSP00000494735.1:p.Arg227=
ENST00000643520.1:n.959A=
ENST00000644371.2:c.793A= MANE Select	ENSP00000495778.1:p.Asn265=
ENST00000646378.1:c.*843A=	ENSP00000495826.1:n.*843A=
ENST00000646799.1:c.*248-753A=	ENSP00000494829.1:n.*248-753A=
ENST00000649763.1:c.793A=	ENSP00000497701.1:p.Asn265=
ENST00000413300.1:c.270-76A=	ENSP00000392159.1:n.270-76A=
ENST00000458276.6:c.793A=	ENSP00000390849.2:p.Asn265=
ENST00000463153.1:n.23A=
NM_016006.4:c.793A=	NP_057090.2:p.Asn265=
XM_011533779.1:c.670A=	XP_011532081.1:p.Asn224=
XM_011533780.1:c.774-753A=	XP_011532082.1:n.774-753A=
XR_940447.1:n.738A=
NM_001355186.1:c.793A=	NP_001342115.1:p.Asn265=
NM_001365649.1:c.670A=	NP_001352578.1:p.Asn224=
NM_001365650.1:c.774-753A=	NP_001352579.1:n.774-753A=
NM_016006.5:c.793A=	NP_057090.2:p.Asn265=
NR_158560.1:n.804A=
NM_001355186.2:c.793A=	NP_001342115.1:p.Asn265=
NM_016006.6:c.793A= MANE Select	NP_057090.2:p.Asn265=